Prenatal

Maybe you or a family member found out they are a Fragile X carrier and are trying to get pregnant, or you might be pregnant and have found out that your baby may have Fragile X syndrome. Whatever the case, we know you have a lot of questions, worries, anxieties, etc. Whether you are hearing this for the first time or you have a family history, here is the information for you.

Also, if you are pregnant and just found out you either are a premutation carrier or have the full mutation, please email the NFXF at treatment@fragilex.org and we will get you connected with a genetic counselor right away.

Fragile X Info

• NFXF Newly Diagnosed
• Fragile X Disorders
• Genetics & Inheritance
• The Who, What and How of Genetic Counseling
• Genetic Counseling and Family Support Consensus Document
• Testing and Diagnosis
• Reproductive Options
• Premutation Carriers
• Fragile X Clinics
• Understanding a Fragile X Intermediate Result
• FMR1 Gray Zone Allele: What Do We Know About It?

Premutation Carriers

• Advances in Understanding Premutation Involvement in Women & Advice to Stay Healthy – Also see the figures and tables in the Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers.

Support

• The NFXF Community Support Network brings families together for support, education, and fun.

External Resources

• Fragile X Syndrome, from the CDC (Centers for Disease Control and Prevention)
• Fragile X Syndrome, from the NIH (National Institutes of Health)
• About Fragile X Syndrome, from the NIH National Human Genome Research Institute
• Making Sense of Your Genes: A Guide to Genetic Counseling, from the Genetic Alliance

From the American Academy of Pediatrics

• Tests & Screenings During Pregnancy
• Prenatal Genetic Counseling
• Finding a Pediatrician

Ages 0–3

When your child is between the age of birth to 3 years, you will be introduced to a variety of new terms and new services, and the importance of early intervention and treatment is emphasized. This is daunting, so the resources here help you to understand what comes next and how to best help your child.

The NFXF is here to help you with a new diagnosis and to navigate this new experience. You can reach out to treatment@fragilex.org or join our community. Depending on your state, the services listed here may change when your child turns 3, so we have included information to not only help you now, but to also help you prepare for the changes that happens when your child turns 3.

From the NFXF

Early Intervention for Infants and Toddlers with Fragile X Syndrome: Includes:

• Early intervention process
• Multidisciplinary evaluation and assessment
• Parent preparation
• Individualized family service plan (IFSP)
• Possible early intervention services
• Types of goals for infants and toddlers
• Where services are provided
• How services may be provided
• Family rights
• Transition plan at age 3

From the American Academy of Pediatricians

Ages 4–13

Your child is either transitioning to school or in school — either way, there are now a wealth of resources and programs to help you and your child, but they vary by state, can be bureaucratic, and the information can be overwhelming.

Education

• Educational Resources: Books, links, apps, and more.

Treatment and Intervention Recommendations for Fragile X

These documents help you and your doctor understand the general scientific and practitioner consensus around different topics related to treating Fragile X. They can be helpful for you and can also be passed along to your doctor or therapists.

• Autism Spectrum Disorder in Fragile X Syndrome
• Assessment of Fragile X Syndrome
• Behavioral Challenges in Fragile X Syndrome
• Educational Guidelines for Fragile X Syndrome: General
• Educational Guidelines for Fragile X Syndrome: Early Childhood (Birth to 5 Years)
• Educational Guidelines for Fragile X Syndrome: Elementary Students
• Hyperarousal in Fragile X Syndrome (PDF)
• Medications for Individuals with Fragile X Syndrome: Not yet available, coming soon.
• Physical Problems in FXS (PDF)
• Seizures in Fragile X Syndrome (PDF)
• Sleep in Children with Fragile X Syndrome (PDF)
• Toileting Issues in Fragile X Syndrome
• Use of Complementary and Alternative Therapies in the Treatment of Fragile X Syndrome (PDF)
• Sensory Processing and Integration Issues in Fragile X Syndrome (PDF)

More Resources

• Individualized Family Service Plan (IFSP): Early intervention (IDEA Part C) is for children ages birth through 3 years old. The IFSP centers around family life and building positive relationships and effective communications within the child’s natural environment (usually home).
• Individualized Education Program (IEP): Children transitioning from Part C to Part B, Section 619, will create an IEP that they’ll continue with throughout their school years. (Note that transitioning to Part B preschool services involves evaluations and assessments for eligibility, and each state has their own definitions.)
• The ARC: For people with intellectual and developmental disabilities. They have chapters throughout the country to help parents, especially with issues specific to each state/community.
• Center for Parent Information and Resources
  • IDEA—the Individuals with Disabilities Education Act
  • Section 504 of the Rehabilitation Act of 1973
  • Requesting a Meeting to Review Your Child’s IEP
• Part C of IDEA, from the Early Childhood Technical Assistance Center (ages birth through 2 years)
• Wrightslaw: Information about special education law and advocacy for children with disabilities.
• Wrightslaw Yellow Pages for Kids with Disabilities

Ages 14–17

When your child enters high school, it is time to start thinking about what experiences you want for your child as well as what you’re looking toward when your child leaves school. It can be a little perplexing at times, but reach out to other families for guidance and assurance, because it can also be an exciting time. You will also want to start looking at the transition program that your school offers for the 18–21 years.

High School

• Toilet Training the Older Child
• Ten Things to Do When Your Child Starts High School
• Adolescent & Adult Project

Treatment and Intervention Recommendations for Fragile X

These documents help you and your doctor understand the general scientific and practitioner consensus around different topics related to treating Fragile X. They can be helpful for you and can also be passed along to your doctor or therapists.

• Autism Spectrum Disorder in Fragile X Syndrome
• Assessment of Fragile X Syndrome
• Behavioral Challenges in Fragile X Syndrome
• Educational Guidelines for Fragile X Syndrome: General
• Educational Guidelines for Fragile X Syndrome: Early Childhood (Birth to 5 Years)
• Educational Guidelines for Fragile X Syndrome: Elementary Students
• Hyperarousal in Fragile X Syndrome (PDF)
• Medications for Individuals with Fragile X Syndrome
• Physical Problems in FXS (PDF)
• Seizures in Fragile X Syndrome (PDF)
• Sleep in Children with Fragile X Syndrome (PDF)
• Toileting Issues in Fragile X Syndrome
• Use of Complementary and Alternative Therapies in the Treatment of Fragile X Syndrome (PDF)
• Sensory Processing and Integration Issues in Fragile X Syndrome (PDF)

More Resources

• Got Transition: Federally funded national resource center that aims to help youth and young adults move from pediatric to adult health care.
• Best Buddies: Dedicated to ending the social, physical, and economic isolation of the 200 million people with intellectual and developmental disabilities (IDD).
• Special Olympics
• Guardianship, estate planning, power of attorney, Medicaid, and SSI are all important issues that are beyond the scope of this resource. Guardianship and power of attorney, especially, vary drastically by state and other jurisdictions, so it’s important to seek local legal counsel. Your local ARC can be a useful resource for these important topics.

Ages 18–21

These are the transition years for many. Some will stay in their high school and others will go to a new site and still others may go on to college. Every state has their own transition guidelines and you will find those very helpful. While most will leave the school system at age 21 or 22, again, states vary on this age and the types of services they offer. Use these transition years to get your child set up for post high school as best you can.

High School and Beyond

• Toilet Training the Older Child
• Employment & Daily Activities
• Getting and Keeping a Job
• Adolescent & Adult Project
• Planning for College
• Community Living

More Resources

• Got Transition: Federally funded national resource center that aims to help youth and young adults move from pediatric to adult health care.
• Best Buddies: Dedicated to ending the social, physical, and economic isolation of the 200 million people with intellectual and developmental disabilities (IDD).
• Special Olympics
• When a Child Turns 22 — Advice for Families and Caregivers: Adults with special needs have their own emotional, social, career, financial, legal, and medical concerns that parents should address before they turn 22. 
• Guardianship, estate planning, power of attorney, Medicaid, and SSI are all important issues that are beyond the scope of this resource. Guardianship and power of attorney, especially, vary drastically by state and other jurisdictions, so it’s important to seek local legal counsel. Your local ARC can be a useful resource for these important topics.

Ages 22+

Once your child is out of the school system there is no IDEA that guarantees services for your child. Often there is a wait list for services and the wait can be years. Every state is different and you may even see differences between counties within the same state!

It’s important to realize that it could be up to you to set up your young adult’s day — 24 hours a day, seven days a week. You will have to find the job, the day program, and the afternoon activity. There may or may not be services to help with this. Get connected with your local Community Support Network chapter, if you aren’t already. Reach out to other parents of young adults in your community. Our best recommendation — keep your young adult engaged in the community as much as possible and keep them active. Your young adult will continue to learn and grow, and you will have fun watching them grow into an adult!

Young Adults

• Toilet Training the Older Child
• Employment & Daily Activities
• Getting and Keeping a Job
• Adolescent & Adult Project
• Planning for College
• Community Living

More Resources

• Got Transition: Federally funded national resource center that aims to help youth and young adults move from pediatric to adult health care.
• Best Buddies: Dedicated to ending the social, physical, and economic isolation of the 200 million people with intellectual and developmental disabilities (IDD).
• Special Olympics
• When a Child Turns 22 — Advice for Families and Caregivers: Adults with special needs have their own emotional, social, career, financial, legal, and medical concerns that parents should address before they turn 22.
• Guardianship, estate planning, power of attorney, Medicaid, and SSI are all important issues that are beyond the scope of this resource. Guardianship and power of attorney, especially, vary drastically by state and other jurisdictions, so it’s important to seek local legal counsel. Your local ARC can be a useful resource for these important topics.